Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84197
Gene name	Protein O-mannose kinase
Gene symbol	POMK
Synonyms (NCBI Gene)	MDDGA12MDDGC12SGK196
Chromosome	8
Chromosome location	8p11.21
Summary	This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens u

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SNP ID	Visualize variation	Clinical significance	Consequence
rs143957574	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs149297443	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs199756983	T>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs200555259	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397509385	T>G	Pathogenic	Coding sequence variant, missense variant
rs397509386	A>G	Pathogenic	Coding sequence variant, missense variant
rs587777423	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs606231306	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs749980792	C>-,CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs886041651	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1454006905	GA>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (9)

miRTarBase ID	miRNA	Experiments	Reference
MIRT741775	hsa-miR-548ao-3p	HITS-CLIP	23824327
MIRT741776	hsa-miR-451b	HITS-CLIP	23824327
MIRT741777	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT741778	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT741779	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT741780	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT741781	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT741782	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT741783	hsa-miR-4696	HITS-CLIP	23824327

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32707033
GO:0005524	Function	ATP binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006493	Process	Protein O-linked glycosylation	IBA
GO:0006493	Process	Protein O-linked glycosylation	IDA	23929950
GO:0006493	Process	Protein O-linked glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	TAS
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	TAS	23929950
GO:0007611	Process	Learning or memory	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016772	Function	Transferase activity, transferring phosphorus-containing groups	IEA
GO:0016773	Function	Phosphotransferase activity, alcohol group as acceptor	IBA
GO:0016773	Function	Phosphotransferase activity, alcohol group as acceptor	IDA	23929950
GO:0019200	Function	Carbohydrate kinase activity	IBA
GO:0019200	Function	Carbohydrate kinase activity	IEA
GO:0019200	Function	Carbohydrate kinase activity	TAS
GO:0019233	Process	Sensory perception of pain	IEA
GO:0046835	Process	Carbohydrate phosphorylation	IDA	23929950
GO:0046835	Process	Carbohydrate phosphorylation	IEA
GO:0050905	Process	Neuromuscular process	IEA

MIM	HGNC	e!Ensembl
615247	26267	ENSG00000185900

Q9H5K3

Protein name

Protein O-mannose kinase (POMK) (EC 2.7.1.183) (Protein kinase-like protein SgK196) (Sugen kinase 196)

Protein function

Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-manno

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07714	PK_Tyr_Ser-Thr	81 → 218	Protein tyrosine and serine/threonine kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Highest expression is observed in brain, skeletal muscle, kidney and heart in fetal and adult tissues. {ECO:0000269|PubMed:24925318}.

Sequence

MEKQPQNSRRGLAPREVPPAVGLLLIMALMNTLLYLCLDHFFIAPRQSTVDPTHCPYGHF
RIGQMKNCSPWLSCEELRTEVRQLKRVGEGAVKRVFLSEWKEHKVALSQLTSLEMKDDFL
HGLQMLKSLQGTHVVTLLGYCEDDNTMLTEYHPLGSLSNLEETLNLSKYQNVNTWQHRLE
LAMDYVSIINYLHHSPVGTRVMCDSNDLPKTLSQYLLTSNFSILANDLDALPLVNHSSGM
LVKCGHRELHGDFVAPEQLWPYGEDVPFHDDLMPSYDEKIDIWKIPDISSFLLGHIEGSD
MVRFHLFDIHKACKSQTPSERPTAQDVLETYQKVLDTLRDAMMSQAREML

Sequence length

350

Interactions

View interactions

	KEGG		Reactome
	Mannose type O-glycan biosynthesis Metabolic pathways		O-linked glycosylation

480

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Limb-girdle muscular dystrophy due to POMK deficiency	Pathogenic; Likely pathogenic	rs781088854, rs774013796, rs2130601407, rs528307346, rs2130626422, rs587777423, rs2130626601, rs1251606511, rs751981817, rs2486780850, rs2486756300, rs1316985932, rs2486780804, rs2486781061, rs1586681137 View all (4 more)	RCV003781137 RCV001389788 RCV001384163 RCV001885168 RCV005225518 RCV000148014 RCV002035362 RCV003093439 RCV003088398 RCV002597218 RCV002824763 RCV005216088 RCV003798103 RCV003803928 RCV003805027 RCV000706836 RCV001203241 RCV001053386 RCV001221319
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	Pathogenic; Likely pathogenic	rs781088854, rs774013796, rs2130601407, rs528307346, rs2130626422, rs587777423, rs2130626601, rs606231306, rs1251606511, rs751981817, rs2486780850, rs2486756300, rs1316985932, rs2486780804, rs2486781061 View all (6 more)	RCV003781137 RCV001389788 RCV001384163 RCV001885168 RCV001825152 RCV000119846 RCV002035362 RCV000148015 RCV003093439 RCV003088398 RCV002597218 RCV002824763 RCV005216088 RCV003798103 RCV003803928 RCV003805027 RCV000706836 RCV000043555 RCV001203241 RCV001053386 RCV001221319
POMK-related disorder	Likely pathogenic; Pathogenic	rs2486780520, rs1316985932	RCV003392939 RCV003418852

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Colorectal Neoplasms	Associate	32852072
Encephalocele	Associate	32907597
Lung Diseases	Associate	32275906
Muscular Dystrophies	Associate	23929950
Muscular Dystrophies Limb Girdle	Associate	29910097
Vascular Remodeling	Associate	32275906
Walker Warburg Syndrome	Associate	29910097, 30060766, 32907597

POMK (protein O-mannose kinase)